R3G (p.Arg3Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
R3G (p.Arg3Gly) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs774455792
- ClinGen CA360264750
- ClinVar RCV002419162
- ClinVar RCV003099811
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.62
- MetaLR 0.67
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)